| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +2 more | |
Click to view in NCBI Gene